Unexplained young onset end-stage renal disease - additional genes
Gene: EYA1EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiootorenal Syndrome
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 12:32 p.m.
Comment on phenotypes: Also associated with Otofaciocervical syndrome 166780 and Branchiootic syndrome 1 602588Created: 4 Aug 2016, 12:31 p.m.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Well established genetic cause of a variety of renal tract malformations including renal agenesis, renal dysplasia and calyceal malformations/cysts. Testing available on the UK Gene Testing Network. Severity of renal disease can vary markedly between patients, even in one family.Created: 22 Apr 2016, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650
- OMIM
- 601653
- Clinvar variants
- Variants in EYA1
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- Clefting
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- CAKUT
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: EYA1 were changed from Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 to Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: EYA1 was added gene: EYA1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650